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Genetic Disorders (679)

Categories:

Klippel-Feil Syndrome@ (7)
Langer-Giedion Syndrome@ (2)
Larsen Syndrome@ (4)
Laurence-Moon Syndrome (3)
Leber's Congenital Amaurosis@ (11)
Leigh's@ (4)
Lesch-Nyhan Syndrome (1)
Leukodystrophy@ (25)
Lissencephaly@ (5)
Lowe Syndrome (2)
Lymphedema@ (26)
Lysinuric Protein Intolerance@ (5)
MEB Disease (3)
Machado-Joseph (3)
Mannosidosis (2)
Maple Syrup Urine Disease@ (10)
Marfan Syndrome@ (29)
McArdle's (1)
Meckel-Gruber Syndrome (2)
Menkes' Syndrome@ (8)
Metabolic@ (407)
Mobius Syndrome (5)
Mucolipidosis Type IV@ (4)
Mulibrey Nanism (2)
Multiple Hereditary Exostoses@ (7)
Muscular Dystrophies@ (68)
Musculoskeletal@ (221)
Myotonic Dystrophy@ (4)
Nail Patella Syndrome (5)
Narcolepsy@ (23)
Nasu-Hakola Disease (3)
Neurofibromatosis@ (18)
Neurological@ (111)
Niemann-Pick@ (4)
Noonan Syndrome (8)
Opitz Syndrome (6)
Organizations (8)
Osteogenesis Imperfecta@ (14)
PEHO Syndrome@ (5)
Pallister Killian Mosaic Syndrome (2)
Pallister-Hall Syndrome (3)
Personal Pages (13)
Phenylketonuria@ (9)
Polycystic Kidney@ (13)
Popliteal Pterygium Syndrome (2)
Porphyrias@ (14)
Prader-Willi Syndrome (8)
Progeria@ (10)
Propionic Acidemia (5)
Proteus Syndrome (4)
Prune Belly Syndrome (2)
Pseudoxanthoma Elasticum (5)
RAPADILINO Syndrome (3)
Refsum's@ (3)
Retinoblastoma@ (30)
Retinoschisis@ (7)
Rett's Syndrome@ (21)
Robinow Syndrome (4)
Rubinstein-Taybi Syndrome@ (3)
Russell Silver Syndrome (2)
Sanfilippo Syndrome (8)
Schizencephaly (2)
Shwachman Syndrome (7)
Sickle Cell@ (18)
Sirenomelia (7)
Smith Lemli Opitz Syndrome (3)
Smith-Magenis Syndrome (3)
Soto's Syndrome (5)
Spinal Muscular Atrophy@ (16)
Stickler's Syndrome@ (4)
Sturge-Weber Syndrome (4)
Support Groups@ (26)
Tay-Sachs@ (4)
Thalassemia@ (23)
Thrombocytopenia Absent Radius Syndrome (3)
Tourette Syndrome@ (57)
Treacher Collins Syndrome@ (4)
Trichothiodystrophy (10)
Tuberous Sclerosis@ (14)
Turner Syndrome (11)
Tyrosinemia@ (3)
Unverricht-Lundborg Disease@ (3)
Urea Cycle (2)
Urological@ (27)
Usher Syndrome (2)
VATER Syndrome@ (7)
Velo-Cardio-Facial Syndrome (5)
Von Hippel-Lindau (4)
WAGR Syndrome@ (4)
Waardenburg Syndrome (2)
Weaver Syndrome (2)
Williams Syndrome (9)
Wilson's Disease@ (13)
Wolf-Hirschhorn Syndrome (9)
Xeroderma Pigmentosum (6)
Zellweger Syndrome (7)

See Also:

This category in other languages:

Danish, Dutch, French, German, Italian, Japanese, Polish, Spanish, Swedish, Turkish

Editor's Picks:

» Gene Clinics

Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients.
http://www.geneclinics.org

Sites:

» A3243G
Explains a gene defect of mitochondrial DNA which causes several diseases, including maternally inherited diabetes with deafness. Features a newsletter, patient forum and definitions.
http://www.a3243g.com/

http://freespace.virgin.net/andy.bowles/

» Blepharophimosis Ptosis Epicanthus Inversus Syndrome
The BPEI (BPES) Family Network encourages people to get in touch with each other, share information and ask questions. Explanation of this rare eye disorder.
http://freespace.virgin.net/andy.bowles/

» Dr. Greene's HouseCalls: Trisomy 13
Discusses medical information on this chromosome abnormality, including the doctor's personal family experience with this rare disease.
http://www.drgreene.com/html/21614.html

http://www.ctds.info/genetic_disorders.html

» Genetic Disorders: The Links to Diet
Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy, homocystinuria, and cystic fibrosis.
http://www.ctds.info/genetic_disorders.html

» Genetic and Rare Conditions
Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z.
http://www.kumc.edu/gec/support/

» IMMD Institute of Medical Molecular Diagnostics Ltd.
The IMMD is a genetic testing laboratory located in Germany. Provides genetic tests for hereditary breast cancer, various cardiovascular diseases or diseases with onset in childhood.
http://www.immd.de/

http://www.newscientist.com/article.ns?id=dn7445

» New Scientist: Heroin Addiction Gene Identified and Blocked
Scientists have not only identified a critical gene involved in heroin addiction relapse, but they have also successfully blocked it, eliminating cravings for the drug.
http://www.newscientist.com/article.ns?id=dn7445

» Primary Ciliary Dyskinesia
Information on a rare congenital disease.
http://www.p-c-d.org/en/

» The Center For Jewish Genetics Disorders
A critical effort to provide public and professional education for many of the identified Jewish genetic disorders. Find info on screening and counseling, advocacy, events and community resources.
http://www.jewishgeneticscenter.org/

» The UDGD Spot
Resources and information for families of children with genetic disabilities or syndromes that are still awaiting a diagnosis.
http://www.camp-a-roo.com/UDGD/

http://www.siteman.wustl.edu/physician/clinical_trials/non_therapeutic_1736_detail.shtml

» Washington University in St Louis
Family resource for individuals with Papillon Lefevre, Haim-Munk Syndrome and Prepubertal Periodontis. Interested families may participate in a registry dedicated to learning about the natural history of these three conditions.
http://www.siteman.wustl.edu/physician/clinical_trials/non_therapeutic_1736_detail.shtml

» XLH Network
Patient support group for XLH, a genetic condition also known as X-Linked Hypophosphatemia, X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets.
http://www.xlhnetwork.org

» Your Genes, Your Health
The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed.
http://www.ygyh.org

Category Editors: bobrat, jdaw1

Last Updated: 2006-09-02 07:42:36

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